List of variants reported as pathogenic for Fanconi anemia complementation group I by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00011
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)	rs769248873	0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	rs121918164	0.00005
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)	rs1491132258	0.00003
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)	rs551399966	0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_001113378.2(FANCI):c.158-2A>G	rs762128147
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)	rs758597713
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)	rs2152017390
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)	rs551305056

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